https://scholars.lib.ntu.edu.tw/handle/123456789/548160
標題: | Novel mutation in the TSC2 gene associated with prenatally diagnosed cardiac rhabdomyomas and cerebral tuberous sclerosis | 作者: | Chen C.-P. Su Y.-N. Hung C.-C. JIN-CHUNG SHIH Wang W. |
關鍵字: | Cardiac rhabdomyoma; Cerebral tuberous sclerosis; HPLC; Tuberlin; Tuberous sclerosis complex | 公開日期: | 2006 | 出版社: | Scientific Communications International Ltd | 卷: | 105 | 期: | 7 | 起(迄)頁: | 599-603 | 來源出版物: | Journal of the Formosan Medical Association | 摘要: | Cardiac rhabdomyomas are prenatal echocardiographic markers for tuberous sclerosis complex (TSC). TSC is caused by mutations in the genes TSC1 and TSC2. We report a 28-year-old, gravida 5, para 2, woman with an uncomplicated pregnancy until prenatal ultrasound at 34 weeks' gestation revealed fetal cardiac tumors. Ultrafast magnetic resonance imaging (MRI) at 3 6 weeks' gestation showed cardiac rhabdomyomas and small subependymal tubers. At 39 weeks' gestation, a 2262 g female infant was delivered uneventfully. Postnatal echocardiography confirmed cardiac rhabdomyomas and MRI verified small cerebral subependymal tubers. Mutational analysis of TSC1 and TSC2 genes using denaturing high-performance liquid chromatography and direct sequencing of the genes was performed and revealed that the parents had wildtype DNA, while the proband was heterozygous for a novel de novo nonsense mutation, c.4830 G > A, in exon 36 of the TSC2 gene, resulting in a change of codon 1610 TGG (tryptophan) to TGA (stop codon). The mutation predicted a W1610X premature termination of the tuberin protein. These findings support an association between a TSC2 de novo nonsense mutation and prenatally detected cardiac rhabdomyomas and cerebral tuberous sclerosis. Familial molecular analysis of TSC1 and TSC2 in cases with prenatally diagnosed cardiac rhabdomyomas and cerebral tuberous sclerosis lesions is helpful in prenatal diagnosis and genetic counseling. ? 2006 Elsevier & Formosan Medical Association. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-33746939411&doi=10.1016%2fS0929-6646%2809%2960157-1&partnerID=40&md5=21e13e2c85338ab1b477c7041edd7881 https://scholars.lib.ntu.edu.tw/handle/123456789/548160 |
ISSN: | 0929-6646 | DOI: | 10.1016/S0929-6646(09)60157-1 | SDG/關鍵字: | tuberin; adult; article; case report; denaturing high performance liquid chromatography; female; fetus; fetus echography; follow up; gene mutation; gene sequence; gestation period; heart cancer; heart ventricle septum; human; mutational analysis; nonsense mutation; nuclear magnetic resonance imaging; perinatal period; polymerase chain reaction; prenatal diagnosis; rhabdomyoma; sequence analysis; tuberous sclerosis |
顯示於: | 醫學系 |
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